Canonical Allele Identifier: CA407439485

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 1677817
• ClinVar RCV Id: RCV002223498 ; RCV002352957
• dbSNP Id: rs1470970097
• gnomAD v2: 19-55663231-C-G
• gnomAD v4: 19-55151863-C-G
• MyVariant Identifiers: chr19:g.55663231C>G (hg19) ; chr19:g.55151863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151863C>G , CM000681.2:g.55151863C>G	GRCh38
NC_000019.9:g.55663231C>G , CM000681.1:g.55663231C>G	GRCh37
NC_000019.8:g.60355043C>G	NCBI36
NG_007866.2:g.10870G>C , LRG_432:g.10870G>C
NG_011829.2:g.2376G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.604G>C MANE Select	ENSP00000341838.5:p.Glu202Gln
ENST00000665070.1:c.637G>C	ENSP00000499482.1:p.Glu213Gln
ENST00000344887.9:c.604G>C	ENSP00000341838.5:p.Glu202Gln
ENST00000585806.5:n.603G>C
ENST00000588882.1:c.529G>C	ENSP00000466729.1:p.Glu177Gln
ENST00000589864.1:n.432G>C
NM_000363.4:c.604G>C , LRG_432t1:c.604G>C	NP_000354.4:p.Glu202Gln
NM_000363.5:c.604G>C MANE Select	NP_000354.4:p.Glu202Gln